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Biochemical and Molecular Genetics Of Human Disease PowerPoint Presentation

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Description : Check out this medical PowerPoint presentation titled "Biochemical and Molecular Genetics of Human Disease".
This medical PowerPoint presentation talks about biochemical and molecular genetics that play important roles in understanding the causes and mechanisms of human disease. Many genetic diseases are caused by mutations or variations in genes that affect the normal function of proteins and other molecules in the body.
Biochemical genetics focuses on the study of how genes control the production, function, and metabolism of proteins and other molecules in the body. This includes the study of enzymes, metabolic pathways, and the interactions between genes and the environment. For example, inborn errors of metabolism are genetic disorders that affect the bodys ability to break down and process nutrients. These disorders can result in a range of symptoms, including developmental delays, neurological problems, and metabolic imbalances.
Molecular genetics focuses on the study of the structure and function of genes, including how they are inherited, expressed, and regulated. Advances in molecular genetics have led to the identification of many disease-causing genes, as well as the development of new diagnostic and treatment approaches. For example, genetic testing can be used to identify mutations in genes associated with cancer, allowing for earlier detection and personalized treatment plans.
Both biochemical and molecular genetics are important for understanding the underlying mechanisms of many human diseases, including genetic disorders, cancer, and neurodegenerative diseases. By studying these mechanisms, researchers can develop new treatments and therapies that target the underlying causes of these diseases.

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Published on : Mar 27, 2023 | Views : 724 | Downloads : 0

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Slide 1-

Biochemical and Molecular Genetics of Human Disease I Monogenic disorders Garrod’s Inborn Errors of Metabolism G6PD deficiency Alpha-1 antitrypsin deficiency Familial hypercholesterolemia Hemophilia Heritable disorders of collagen
Slide 2-

Patient 82 year-old woman Past history of hip replacement Cervical spine kyphosis and ankylosis
Slide 3-

Patient 82 year-old woman Past history of hip replacement Cervical spine kyphosis and ankylosis Skin pigmentation
Slide 4-

Alkaptonuria
Slide 5-

Garrod’s studies on Alkaptonuria 1 Metabolic Homogentisic acid Protein feeding “…each successive step in the building up and breaking down… of proteins…is the work of special enzymes…”
Slide 6-

Alkaptonuria--mouse
Slide 7-

Garrod’s studies on Alkaptonuria 2 Familial nature “ apt to occur in several brothers and sisters whose parents do not exhibit the anomaly and direct transmission from parent to child is very rare” In 8 of 17 families, parents were first cousins Bateson—recessive Garrod—genes may encode enzymes “One gene—one enzyme” (Now—many proteins/gene)
Slide 8-

Garrod’s studies on Alkaptonuria 3 Biochemical (and genetic) individuality “The existence of chemical individuality follows of necessity from that of chemical specificity. Even those idiosyncrasies with regard to drugs and articles of food which are summed up in the proverbial saying that what is one man’s meat is another man’s poison presumably have a chemical (and genetic) basis.” Pharmacogenetics
Slide 9-

“an almost countless variety of such sports” High infant mortality Paper chromatography Human cells in tissue culture Molecular technology >400 inborn errors of metabolism
Slide 10-

The (Molecular and) Metabolic Basis of Inherited Diseases
Slide 11-

Glucose-6-Phosphate Dehydrogenase Deficiency
Slide 12-

G6PD
Slide 13-

G6PD A- 10% of African-American males 15% of normal G6PD activity Sensitive to certain antimalarials, antibiotics, and infections, resulting in a self-limited acute hemolytic anemia G6PD A- protein half-life 13 days (N=62) Old RBCs selectively hemolyzed Bone marrow compensates Phenotype limited to RBC
Slide 14-

G6PD A- q = 0.1 2pq = 2 x 0.9 x 0.1 = 0.18 q2 = 0.01 1% of African-American females are homozygous affected Mating of heterozygous female with affected male resulting in apparent male-to-male transmission
Slide 15-

G6PD Med Favism
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Quod Aliis Cibus EstAliis Fuat Acre VenenumLucretius Caro, De Rerum Natura 65 BC What is food to some men May be poison to others
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G6PD B WT G6PD A electrophoretic variant N126D A- V68M Med S188F Variable phenotype -neonatal jaundice -acute or chronic hemolytic anemia Missense mutations >130 mutations >30 polymorphic
Slide 18-

C to T transition
Slide 19-

G6PD deficiency distribution
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G6PD polymorphisms >400M affected with G6PD deficiency High frequency in areas in which malaria is or has been endemic Balanced polymorphism lower parasite counts in heterozygous women
Slide 21-

Pharmacogenetics Differences in therapeutic efficiency “Idiosyncratic” reactions to drugs Complex interactions
Slide 22-

Application of pharmacogenomics
Slide 23-

Factor V Leiden
Slide 24-

Thiopurine 6-methyltransferase deficiency and 6MP therapy
Slide 25-

Application of Pharmacogenomics
Slide 26-

Pharmacogenetics—two views RS Schwartz NEJM 344:1392-93(2001) “A racial designation in the context of medical management not only defies everything we have learned from biology, genetics, and history but also opens the door to inequities in medical care.” AJJ Wood NEJM 344: 1393-95 (2001) “Genetic differences among racial and ethnic groups usually reflect differences in the distribution of polymorphic traits, which occur at different frequencies in different populations, rather than a trait unique to a particular racial or ethnic group….Thus, racial differences in the response to drugs not only have practical importance for the choice and dose of drugs but should also alert physicians to the important underlying genetic determinants of drug response.”
Slide 27-

Patient G.G. 46 yo caucasian male 1 ppd cigarette smoker from age 15 to 43 Increasing SOB for 2 years Bronchitis x 2, pneumonia PFTs: obstructive lung disease (FEV1 30% predicted) with hyperinflation α1AT (A1AT) = 17 mg/dl (N 113-263) Pi ZZ
Slide 28-

Alpha-1 antitrypsin
Slide 29-

Alpha-1 antitrypsin--smoking